Mutagenetix > Incidental Mutation

Incidental Mutation 'R7124:Espn'

552190

Institutional Source

Beutler Lab

Gene Symbol

Espn

Ensembl Gene

ENSMUSG00000028943

Gene Name

espin

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R7124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152120331-152152371 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 152131264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 513 (H513N)

Ref Sequence

ENSEMBL: ENSMUSP00000030785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030785] [ENSMUST00000049305] [ENSMUST00000070018] [ENSMUST00000080042] [ENSMUST00000084114] [ENSMUST00000103196] [ENSMUST00000105653] [ENSMUST00000105654] [ENSMUST00000105655] [ENSMUST00000105656] [ENSMUST00000105657] [ENSMUST00000105658] [ENSMUST00000105659] [ENSMUST00000135185] [ENSMUST00000207676]

AlphaFold

Q9ET47

Predicted Effect

probably benign
Transcript: ENSMUST00000030785
AA Change: H513N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030785
Gene: ENSMUSG00000028943
AA Change: H513N

Domain	Start	End	E-Value	Type
ANK	35	64	3.26e0	SMART
ANK	69	99	1.15e0	SMART
ANK	103	133	2.58e-3	SMART
ANK	137	167	1.63e0	SMART
ANK	171	201	4.97e-5	SMART
ANK	205	235	3.08e-1	SMART
ANK	239	268	9.13e-4	SMART
ANK	271	300	2.15e0	SMART
ANK	304	334	2.08e3	SMART
low complexity region	377	395	N/A	INTRINSIC
low complexity region	428	465	N/A	INTRINSIC
low complexity region	605	629	N/A	INTRINSIC
WH2	669	686	4.82e-3	SMART
low complexity region	714	728	N/A	INTRINSIC
low complexity region	740	748	N/A	INTRINSIC
coiled coil region	772	848	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000049305

SMART Domains

Protein: ENSMUSP00000037982
Gene: ENSMUSG00000028943

Domain	Start	End	E-Value	Type
WH2	26	43	4.82e-3	SMART
low complexity region	96	110	N/A	INTRINSIC
low complexity region	122	130	N/A	INTRINSIC
coiled coil region	154	230	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070018
AA Change: H175N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065545
Gene: ENSMUSG00000028943
AA Change: H175N

Domain	Start	End	E-Value	Type
low complexity region	50	68	N/A	INTRINSIC
low complexity region	101	138	N/A	INTRINSIC
low complexity region	267	291	N/A	INTRINSIC
low complexity region	304	313	N/A	INTRINSIC
WH2	322	339	4.82e-3	SMART
low complexity region	367	381	N/A	INTRINSIC
low complexity region	393	401	N/A	INTRINSIC
SCOP:d1eq1a_	432	499	4e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080042

SMART Domains

Protein: ENSMUSP00000078951
Gene: ENSMUSG00000028943

Domain	Start	End	E-Value	Type
low complexity region	50	68	N/A	INTRINSIC
low complexity region	101	138	N/A	INTRINSIC
low complexity region	186	210	N/A	INTRINSIC
WH2	250	267	4.82e-3	SMART
low complexity region	295	309	N/A	INTRINSIC
low complexity region	321	329	N/A	INTRINSIC
SCOP:d1eq1a_	360	427	2e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000084114
AA Change: H175N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081131
Gene: ENSMUSG00000028943
AA Change: H175N

Domain	Start	End	E-Value	Type
low complexity region	50	68	N/A	INTRINSIC
low complexity region	101	138	N/A	INTRINSIC
low complexity region	267	291	N/A	INTRINSIC
WH2	331	348	4.82e-3	SMART
low complexity region	376	390	N/A	INTRINSIC
low complexity region	402	410	N/A	INTRINSIC
SCOP:d1eq1a_	441	508	6e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103196

SMART Domains

Protein: ENSMUSP00000099485
Gene: ENSMUSG00000028943

Domain	Start	End	E-Value	Type
low complexity region	50	68	N/A	INTRINSIC
low complexity region	98	135	N/A	INTRINSIC
low complexity region	183	207	N/A	INTRINSIC
low complexity region	220	229	N/A	INTRINSIC
WH2	238	255	4.82e-3	SMART
low complexity region	283	297	N/A	INTRINSIC
low complexity region	309	317	N/A	INTRINSIC
SCOP:d1eq1a_	348	415	2e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105653

SMART Domains

Protein: ENSMUSP00000101278
Gene: ENSMUSG00000028943

Domain	Start	End	E-Value	Type
low complexity region	28	52	N/A	INTRINSIC
low complexity region	65	74	N/A	INTRINSIC
WH2	83	100	4.82e-3	SMART
low complexity region	128	142	N/A	INTRINSIC
low complexity region	154	162	N/A	INTRINSIC
coiled coil region	186	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105654
AA Change: H172N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101279
Gene: ENSMUSG00000028943
AA Change: H172N

Domain	Start	End	E-Value	Type
low complexity region	50	68	N/A	INTRINSIC
low complexity region	98	135	N/A	INTRINSIC
low complexity region	264	288	N/A	INTRINSIC
low complexity region	301	310	N/A	INTRINSIC
WH2	319	336	4.82e-3	SMART
low complexity region	364	378	N/A	INTRINSIC
low complexity region	390	398	N/A	INTRINSIC
SCOP:d1eq1a_	429	496	6e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105655

SMART Domains

Protein: ENSMUSP00000101280
Gene: ENSMUSG00000028943

Domain	Start	End	E-Value	Type
low complexity region	50	68	N/A	INTRINSIC
low complexity region	98	135	N/A	INTRINSIC
low complexity region	183	207	N/A	INTRINSIC
WH2	247	264	4.82e-3	SMART
low complexity region	292	306	N/A	INTRINSIC
low complexity region	318	326	N/A	INTRINSIC
SCOP:d1eq1a_	357	424	3e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105656
AA Change: H172N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101281
Gene: ENSMUSG00000028943
AA Change: H172N

Domain	Start	End	E-Value	Type
low complexity region	50	68	N/A	INTRINSIC
low complexity region	98	135	N/A	INTRINSIC
low complexity region	264	288	N/A	INTRINSIC
WH2	328	345	4.82e-3	SMART
low complexity region	373	387	N/A	INTRINSIC
low complexity region	399	407	N/A	INTRINSIC
SCOP:d1eq1a_	438	505	8e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105657

SMART Domains

Protein: ENSMUSP00000101282
Gene: ENSMUSG00000028943

Domain	Start	End	E-Value	Type
low complexity region	50	68	N/A	INTRINSIC
low complexity region	101	138	N/A	INTRINSIC
low complexity region	186	210	N/A	INTRINSIC
low complexity region	223	232	N/A	INTRINSIC
WH2	241	258	4.82e-3	SMART
low complexity region	286	300	N/A	INTRINSIC
low complexity region	312	320	N/A	INTRINSIC
SCOP:d1eq1a_	351	418	2e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105658
AA Change: H499N

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101283
Gene: ENSMUSG00000028943
AA Change: H499N

Domain	Start	End	E-Value	Type
ANK	35	64	3.26e0	SMART
ANK	69	99	1.15e0	SMART
ANK	103	133	2.58e-3	SMART
ANK	137	167	1.63e0	SMART
ANK	171	201	4.97e-5	SMART
ANK	205	235	3.08e-1	SMART
ANK	239	268	9.13e-4	SMART
ANK	271	300	2.15e0	SMART
ANK	304	334	2.08e3	SMART
low complexity region	377	395	N/A	INTRINSIC
low complexity region	425	462	N/A	INTRINSIC
low complexity region	591	615	N/A	INTRINSIC
low complexity region	628	637	N/A	INTRINSIC
WH2	646	663	4.82e-3	SMART
low complexity region	691	705	N/A	INTRINSIC
low complexity region	717	725	N/A	INTRINSIC
coiled coil region	749	825	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105659
AA Change: H502N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000101284
Gene: ENSMUSG00000028943
AA Change: H502N

Domain	Start	End	E-Value	Type
ANK	35	64	3.26e0	SMART
ANK	69	99	1.15e0	SMART
ANK	103	133	2.58e-3	SMART
ANK	137	167	1.63e0	SMART
ANK	171	201	4.97e-5	SMART
ANK	205	235	3.08e-1	SMART
ANK	239	268	9.13e-4	SMART
ANK	271	300	2.15e0	SMART
ANK	304	334	2.08e3	SMART
low complexity region	377	395	N/A	INTRINSIC
low complexity region	428	465	N/A	INTRINSIC
low complexity region	624	648	N/A	INTRINSIC
low complexity region	661	670	N/A	INTRINSIC
WH2	679	696	4.82e-3	SMART
low complexity region	724	738	N/A	INTRINSIC
low complexity region	750	758	N/A	INTRINSIC
coiled coil region	782	858	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135185
AA Change: H404N

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000122464
Gene: ENSMUSG00000028943
AA Change: H404N

Domain	Start	End	E-Value	Type
ANK	5	35	2.58e-3	SMART
ANK	39	69	1.63e0	SMART
ANK	73	103	4.97e-5	SMART
ANK	107	137	3.08e-1	SMART
ANK	141	170	9.13e-4	SMART
ANK	173	202	2.15e0	SMART
ANK	206	236	2.08e3	SMART
low complexity region	279	297	N/A	INTRINSIC
low complexity region	330	367	N/A	INTRINSIC
low complexity region	496	520	N/A	INTRINSIC
low complexity region	533	542	N/A	INTRINSIC
WH2	551	568	4.82e-3	SMART
low complexity region	596	610	N/A	INTRINSIC
low complexity region	622	630	N/A	INTRINSIC
coiled coil region	654	685	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207676
AA Change: H499N

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit progressive degeneration of both inner and outer hair cells, severe deafness, vestibular dysfunction, and poor mothering ability. Heterozygotes show a progressive, age-related hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	C	3: 124,414,393	S212R	probably benign	Het
4930562C15Rik	T	C	16: 4,864,332	S170P	probably benign	Het
9330182O14Rik	G	A	15: 40,144,907	C59Y	unknown	Het
AA986860	A	G	1: 130,742,887	E282G	possibly damaging	Het
Adam1a	G	T	5: 121,519,334	T632K	probably benign	Het
Aspg	G	T	12: 112,122,983	A402S	probably damaging	Het
Capn7	C	T	14: 31,336,685		probably benign	Het
Card9	C	T	2: 26,356,884		probably null	Het
Cdh13	T	C	8: 118,968,173	V254A	probably damaging	Het
Colec10	T	C	15: 54,462,371	V199A	probably damaging	Het
Copb2	T	C	9: 98,577,053	S283P	probably damaging	Het
Csmd1	G	T	8: 15,903,202	S3426R	probably damaging	Het
Cyp4f14	A	G	17: 32,914,588	V98A	probably benign	Het
Disp1	C	A	1: 183,087,466	R1130L	probably damaging	Het
Dysf	A	G	6: 84,190,901		probably null	Het
Eif4ebp1	T	C	8: 27,273,419	V80A	probably damaging	Het
Eloa	T	A	4: 136,009,141	I565F	probably damaging	Het
Fam83c	C	T	2: 155,829,571	S648N	probably benign	Het
Fdxr	C	T	11: 115,269,577	V351M	probably benign	Het
Fras1	A	T	5: 96,714,401	D2213V	probably damaging	Het
Gbp4	T	A	5: 105,119,959	I474F	possibly damaging	Het
Gm11639	T	C	11: 104,738,274	F926S	probably benign	Het
Golgb1	T	C	16: 36,913,673	V1135A	probably benign	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Hipk2	A	T	6: 38,818,478	Y285*	probably null	Het
Ifi27l2b	T	C	12: 103,451,320	I203V	probably damaging	Het
Itga10	T	A	3: 96,651,765	M390K	probably damaging	Het
Itgb8	G	T	12: 119,202,424	S124*	probably null	Het
Klhdc10	T	A	6: 30,441,827	F173I	probably damaging	Het
Kng2	T	G	16: 23,012,055	N168T	probably damaging	Het
Krtap24-1	T	C	16: 88,611,546	T231A	probably damaging	Het
Lbx2	A	T	6: 83,088,064	D194V	probably damaging	Het
Lrrc39	C	A	3: 116,565,913	Q36K	probably benign	Het
Madd	T	C	2: 91,162,048	E1093G	possibly damaging	Het
Mfap3l	A	G	8: 60,671,269	T182A	probably damaging	Het
Myo9b	T	A	8: 71,333,701	Y670*	probably null	Het
Nbea	A	G	3: 55,992,444	L1428P	probably damaging	Het
Nkx2-3	T	C	19: 43,614,806	Y284H	possibly damaging	Het
Nphp4	A	G	4: 152,555,684	D1009G	probably benign	Het
Npy2r	G	A	3: 82,541,183	A95V	probably damaging	Het
Nuggc	A	G	14: 65,608,802	E70G	probably damaging	Het
Olfr1020	T	C	2: 85,849,910	S153P	probably benign	Het
Olfr1028	T	A	2: 85,951,473	S137T	possibly damaging	Het
Palld	A	T	8: 61,516,645	V1215D	unknown	Het
Pard6g	T	C	18: 80,117,125	I151T	possibly damaging	Het
Parp12	T	C	6: 39,111,736	I189V	probably benign	Het
Parp4	A	G	14: 56,602,799	I554V	probably benign	Het
Pcnx2	G	A	8: 125,753,617	P1984S	probably damaging	Het
Piwil4	T	C	9: 14,736,900	M128V	probably benign	Het
Polr2a	C	A	11: 69,737,462	E1302*	probably null	Het
Psg17	C	A	7: 18,814,496	G450V	probably damaging	Het
Psg17	C	G	7: 18,814,497	G450R	probably damaging	Het
Rag1	T	C	2: 101,643,783	E338G	probably damaging	Het
Rev3l	A	T	10: 39,822,167	K887*	probably null	Het
Rragd	T	C	4: 32,996,027	F124S	possibly damaging	Het
Scube1	A	T	15: 83,629,511		probably null	Het
Sfpq	A	T	4: 127,025,932	D490V	possibly damaging	Het
Smc1b	G	T	15: 85,071,597	Q1034K	probably damaging	Het
Smg7	T	C	1: 152,878,080	N5S	probably benign	Het
Spata31d1a	A	C	13: 59,702,487	L609R	probably damaging	Het
Ssh2	A	G	11: 77,454,338	K1050E	probably benign	Het
Stab1	G	A	14: 31,160,867	T393I	possibly damaging	Het
Sult2a4	C	T	7: 13,988,395	W49*	probably null	Het
Thrap3	A	T	4: 126,180,438	S172T	unknown	Het
Tmem130	A	G	5: 144,750,911	V205A	probably damaging	Het
Ube2d2b	A	G	5: 107,830,851	I123V	probably benign	Het
Unc79	G	T	12: 103,061,393	L414F	probably damaging	Het
Vmn2r30	C	T	7: 7,334,184	S151N	probably benign	Het
Vmn2r54	T	A	7: 12,622,151	T443S	probably benign	Het
Zfp229	T	A	17: 21,742,616	S51T	probably damaging	Het
Zfp617	T	C	8: 71,932,540	L238P	probably damaging	Het
Zfp707	T	A	15: 75,973,549	C87*	probably null	Het
Zfp853	T	C	5: 143,289,607	K101R	unknown	Het

Other mutations in Espn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Espn	APN	4	152135602	missense	probably damaging	1.00
IGL01404:Espn	APN	4	152138444	missense	probably benign	0.03
IGL01576:Espn	APN	4	152123717	missense	probably damaging	1.00
R0015:Espn	UTSW	4	152139152	missense	possibly damaging	0.77
R1475:Espn	UTSW	4	152134271	missense	probably damaging	1.00
R1773:Espn	UTSW	4	152128229	missense	probably damaging	1.00
R1992:Espn	UTSW	4	152128555	critical splice acceptor site	probably null
R2014:Espn	UTSW	4	152132959	splice site	probably null
R2049:Espn	UTSW	4	152121257	missense	probably damaging	0.99
R2281:Espn	UTSW	4	152135545	missense	possibly damaging	0.94
R4278:Espn	UTSW	4	152134417	missense	probably damaging	1.00
R4527:Espn	UTSW	4	152135649	missense	probably damaging	0.99
R4539:Espn	UTSW	4	152134208	nonsense	probably null
R4621:Espn	UTSW	4	152131252	missense	probably damaging	1.00
R4839:Espn	UTSW	4	152138504	missense	probably damaging	0.99
R4860:Espn	UTSW	4	152138846	missense	probably damaging	0.99
R4860:Espn	UTSW	4	152138846	missense	probably damaging	0.99
R4998:Espn	UTSW	4	152135583	missense	possibly damaging	0.94
R5412:Espn	UTSW	4	152128125	missense	probably damaging	1.00
R5570:Espn	UTSW	4	152123780	missense	probably damaging	1.00
R6549:Espn	UTSW	4	152131068	start codon destroyed	probably null	0.99
R6551:Espn	UTSW	4	152128766
R7838:Espn	UTSW	4	152131281	missense	possibly damaging	0.95
R7863:Espn	UTSW	4	152152159	missense	probably damaging	0.99
R8236:Espn	UTSW	4	152149030	missense	probably damaging	1.00
R8948:Espn	UTSW	4	152138821	missense	probably damaging	1.00
R9234:Espn	UTSW	4	152132923	critical splice donor site	probably null
R9550:Espn	UTSW	4	152131077	missense	probably damaging	0.96
R9607:Espn	UTSW	4	152135482	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTGGAGTCCGCTGAGCAG -3'
(R):5'- TGTGCCCTTGGACCTAACC -3'

Sequencing Primer
(F):5'- TGAGCAGCCGTTGTGCAC -3'
(R):5'- TGTGAGCCGGCCCTTTC -3'

Posted On

2019-05-15